My daughter's ‘sunburn' was actually a sign her ‘blood was on fire' – her horrific cries constantly replay in my head

The Sun

2 days ago

AS Natassja Chadwick watched her daughter claw at her rapidly reddening skin after being in the sun, she "knew something terrible was happening".
Madison, then a toddler, "let out a horrific cry" that replayed over and over in the mum's head.
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When Natassja first noticed Madison go red after a day out, she thought it was just a normal sunburn.
But the little girl was soon clawing at her own skin as the colour intensified.
The 37-year-old mum rushed her to the doctor, where she was told that the toddler has a rare condition that boils her blood after sun exposure - it has no cure.
Natassja said: 'I heard Madison let out a horrific cry after getting burnt by the sun in the garden – this sound replayed in my head over and over for a year.
'I asked her what was wrong, as I couldn't see anything.
'She told me her skin was so itchy that it hurt.
'As her body got progressively more red and she continuously cried out in pain, I knew something terrible was happening.
'When I took Madison to the doctors that first time, they told me that, essentially, her blood was on fire.
'I was horrified at what my little girl had been experiencing.
'As it's so rare, there's no cure."
The condition is officially known as erythropoietic protoporphyria.
It affects one in every 140,000 people in the UK, according to Oxford Academic, with only 394 known with the condition.
It's caused by a genetic mutation in the blood, which makes those affected allergic to sunlight.
A year later, it was discovered that Madison's brother, Isaac, also suffers from the same condition.
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Natassja and husband David, 42, make sure their kids – who are now aged 13 and 11 – and slather exposed skin with expensive, specialised sun cream whenever they go outside.
Both Madison and Isaac have never gone on abroad, as their parents want to avoid the hot weather and piercing sunshine of popular holiday destinations.
But with the UK's temperatures rising, they are now worried for the future of their kids.
Even playing in their own garden can be dangerous for Madison and Isaac.
'If Isaac had it his way, he would be outside from early morning until the last thing at night – but their condition makes this impossible," Natassja, a carer from the Isle of Man, said.
'Madison has so many friends and wants to hang out with them, but realistically, she can't always join in."
Natassja said summers can be especially tricky to manage.
'I struggle in the summer, trying to get the balance right with them, but also battling my own desire to get out in the sun," she said.
'It's extremely stressful, timing taking them to events, so we can do everything quickly and leave to get them home safe in the dark.
Rising temperatures over the weekend are adding to the mum's worries.
'I worry [about] the heatwave, as Isaac suffers with heat exhaustion.
'He tries to be an active young boy, taking part in football and sports with his friends, but due to being fully covered, he overheats and gets very sick.
'I wouldn't consider moving anywhere else, though. There aren't many places that would be better.
What is erythropoietic protoporphyria?
The word 'erythropoietic' is associated with red blood cells ('erythro-') and their formation ('-poietic').
Porphyrias are a group of rare disorders caused by something going wrong with the production of chemicals known as porphyrins.
In the case of erythropoietic protoporphyria, there is a build-up of one of these porphyrins - protoporphyrin IX - in the blood, especially in the red blood cells.
This leads to a sensitivity to sunlight.
As blood passes through the superficial blood vessels under the skin, the protoporphyrin absorbs the energy from sunlight and this sets off a chemical reaction that can slightly damage surrounding tissues.
The nerve endings in the skin interpret this as itching or burning pain, and if the blood vessels are affected, they can leak fluid, causing swelling.
Skin exposure to sunlight causes tingling or itching within a few minutes, severe pain and burning then occur, which may be associated with redness and swelling. These symptoms can take several days to resolve.
During this time, the skin may feel extremely sensitive to temperature, light and touch.
The light producing these changes need not be direct – light reflected off water and sand, or passing through window glass, including car windscreens, can also cause the symptoms.
The condition tends to become apparent in childhood.
Source: British Association of Dermatologists
'We will spend the weekend indoors, with the curtains closed, windows open and lots of fans on.
'It's hard to entertain the kids inside, but we will play games, watch films and do some baking before going outside when it's dark to burn off some energy.
'We are lucky that we have lots of friends and family who will also visit us and spend time indoors with us which massively helps.
'I feel mum guilt when I want to sit out in the garden or when I think about having holidays abroad – but my kids' health is worth any sacrifice.
'But I hate being sat at home while the sun is shining with our curtains closed.
'The kids miss out on so many play dates with their friends.
'I worry they'll lose their social skills and become shells of themselves.'
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After the kids' diagnoses, Natassja did her own research, finding a charity that helped put the family with other children erythropoietic protoporphyria.
'Knowing there's others like them out there was such a relief.
'It's helped them, and me, feel less alone in this battle.'
Medications are being tested to help with the condition but at the time of writing, there is no cure.
Natassja added: 'I want to raise awareness to help progress research into this disease. I've raised money and continue to spread the word.
She said of Madison and Isaac: 'They're happy, fun and resilient children.
'I know they'll remain strong no matter what."
The mum passed advise to other parents ahead of the June heatwave.
'I strongly urge parents to regularly apply and top up factor 50 sun cream, seek shade and ensure children are consuming plenty of liquids during the heatwave."
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